LDH info

Canonical Allele Identifier: CA343882
Gene: APRT HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 18298
ClinVar RCV Id: RCV000033905
dbSNP Id: rs104894507

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88810450C>T , CM000678.2:g.88810450C>T GRCh38
NC_000016.9:g.88876858C>T , CM000678.1:g.88876858C>T GRCh37
NC_000016.8:g.87404359C>T NCBI36
NG_008013.1:g.6485G>A
NG_028266.1:g.11673C>T

Transcript Alleles

HGVS Amino-acid change
NM_000485.2:c.294G>A VV NP_000476.1:p.Trp98Ter
NM_001030018.1:c.294G>A VV NP_001025189.1:p.Trp98Ter
NM_000485.3:c.294G>A VV MANE Preferred NP_000476.1:p.Trp98Ter
NM_001030018.2:c.294G>A VV NP_001025189.1:p.Trp98Ter
ENST00000378364.7:c.294G>A ENSP00000367615.3:p.Trp98Ter
ENST00000426324.6:c.294G>A ENSP00000397007.2:p.Trp98Ter
ENST00000562464.1:n.332-302G>A
ENST00000563655.5:c.241-302G>A ENSP00000456012.1:p.=
ENST00000567391.5:c.188-302G>A ENSP00000457964.1:p.=
ENST00000567713.5:c.294G>A ENSP00000455749.1:p.Trp98Ter
ENST00000568319.5:c.188-302G>A ENSP00000456905.1:p.=
ENST00000569616.1:n.292G>A